Congenital heart defects comprise the most common form of major birth defects, affecting 0.7% of all newborn infants. Jacobsen syndrome (11q-) is a rare chromosomal disorder caused by deletions in distal 11q. We have previously determined that a wide spectrum of the most common congenital heart defects occur in 11q-, including an unprecedented high frequency of hypoplastic left heart syndrome (...

Background and Aims: Congenital heart defects (CHD) are the most common type of congenital disability. Copy number variations (CNVs) have been found as one of the genetic etiology of non-syndromic CHD, and researchers have detected several pathogenic CNVs in patients with cardiac defects. Materials and Methods: In the present study, 70 patients with familial (20 patients) and sporadic (50 pati...

BACKGROUND As a result of antenatal screening, abortion of fetuses with Down syndrome has become increasingly common. Little is known about the cardiovascular phenotype in infants with Down syndrome born today. METHODS Population-based cohort study based on national health registers including 2588 infants with Down syndrome, live-born in Sweden from 1992 to 2012. Risk ratios for congenital he...

OBJECTIVE To analyze the frequency and prevalence of congenital heart defects in a tertiary care center for children with heart diseases. METHODS We carried out an epidemiological assessment of the first medical visit of 4,538 children in a pediatric hospital from January 1995 to December 1997. All patients with congenital heart defects had their diagnoses confirmed at least on echocardiograp...

IMPORTANCE The risk of congenital heart defects in infants of women who had preeclampsia during pregnancy is poorly understood, despite shared angiogenic pathways in both conditions. OBJECTIVE To determine the prevalence of congenital heart defects in offspring of women with preeclampsia. DESIGN, SETTING, AND PARTICIPANTS Population-level analysis of live births before discharge, 1989-2012,...

BACKGROUND Congenital heart defects may be environmentally related, but the association with elevated ambient temperature has received little attention. OBJECTIVES We studied the relationship between outdoor heat during the first trimester of pregnancy and risk of congenital heart defects. METHODS We carried out a retrospective cohort study of 704,209 fetuses between 2 and 8 weeks postconce...

In patients with pulmonary hypertension associated with congenital heart defects, ultrastructural abnormalities are observed in endothelial cells, which suggest heightened metabolic function. If endothelial production of the von Willebrand factor (vWF) is increased, this may be associated with abnormal interactions with platelets leading to worsening of the pulmonary hypertension. We therefore ...

objective deficient enzyme activity may cause congenital metabolic defects. these defectsare inherited in an autosomal recessive, autosomal dominant, and x-linkedpatterns. this study was aimed at investigating the occurrence of metabolicdiseases in qazvin province. materials & methods this cross-sectional study was performed on 79,100 children aged 12 years orless between 2000 and 2010. clinica...

Background Congenital heart disease (CHD) is the most common lethal congenital anomaly. Early diagnosis of CHD by fetal echocardiography based on maternal and fetal indications is important and lifesaving. The aim of study was to assess the referral aspects of pregnant women to pediatric cardiologist. Materials and Methods This was a retrospective cross-sectional study on 250 documents of refer...

CARDIOVASCULAR DISORDERS aortic anomalies aortic aneurism aortic arch, anomalies aortic valvular, anomalies cardiac congenital defects cardiomegaly cardiopathy, congenital heart conduction defects, cardiac arrhythmia, including tachycardia, atrial fibrillation, ventricular fibrillation heart conduction defects, cardiac arrhythmia, including: bradycardia, cardiac dysrhythmias mitral valve, defec...